What has your career path been like to date?
My career to date has alternated between science and medicine: I completed a degree in Biology from Oxford; a medical degree from St George’s Hospital Medical School and worked as a junior doctor before embarking on a PhD at UCL Institute of Neurology with Prof Sarah Tabrizi. I have been very lucky to have had two Clinical Fellow posts during my clinical training, which enabled me to develop my career as both a clinician and a scientist.
Why did you choose to be a dementia researcher?
I am fascinated by the mechanisms that underlie disease, particularly diseases of the brain. I hope my work helps improve our understanding of these disease mechanisms, and that these may lead to better medical treatments for dementia
What does your research focus on?
My work focusses on Huntington’s disease, which is an inherited condition caused by a faulty gene in our DNA which affects the nervous system and can impact movement, learning, thinking and emotions. It has been likened by patients to Alzheimer’s, Parkinson’s, and motor neurone disease all rolled into one.
The disease usually progresses and gets worse relentlessly over a 10-15-year period from when it initially appears and there are currently no treatments that change the course of the disease. We know that the disease progresses more slowly in some people than others; I am interested in why this is the case, because I think that knowing what modulates disease progression in people will provide targets for future therapies.
What was your reaction to winning the Jean Corsan Prize for the best PhD paper?
The Jean Corsan Prize is awarded across the whole field of dementia, so I was surprised honoured and delighted to have won it.
What did you find in your award-wining paper?
In the research paper for which I won the Jean Corsan prize, we found that a version of a gene encoding for DNA repair, affects the progression of Huntington’s disease.
Huntington’s disease is caused by an expansion mutation – a stretch of repetitive DNA which becomes too large, causing the Huntingtin protein to fold the wrong way which results in the disease. We believe that the DNA repair proteins cause this stretch of repetitive DNA to become even larger, and drive faster progression of the disease in some people.
Why is Huntington’s an important research area?
Huntington’s disease is devastating condition with no cure! Having spent years in clinic looking after people with Huntington’s disease, and seen whole families affected by the condition, I think that it imperative that we find a way to treat these people.
Although there are very exciting developments of treatments that target the gene in Huntington’s, I think it is important that we keep looking for other good drug targets as we may need a combination of treatments to tackle the disease, in the same way that HIV and cancer are typically treated with more than one drug. I hope that the DNA repair gene we identified may be a therapeutic target.
Can the rest of the dementia field learn from the recent progress in Huntington’s disease?
It is important in science and medicine to share and learn from successes in one field to other areas.
Although Huntington’s disease is a relatively rare cause of dementia, it can teach us lessons about dementia more broadly. The genetic nature of Huntington’s disease makes it particularly devastating for families who have it, but also gives it some advantages when it comes to studying the disease. We know who has the disease, and who will get it in the future (if they have had the genetic test). This means we have been able to study the course of Huntington’s disease from its earliest stages to learn about how it changes over time in patients. There are drug trials underway using treatments that target this genetic error and the whole field of dementia awaits the results of these trials with great interest.
What has been the highlight of your career so far?
That is a hard one! I think finding the genetic modifier of Huntington’s disease, and the recognition that this research paper has received, such as winning this prize, has to be one of my highlights.
How would you convince someone about the importance of dementia research in one line?
Dementia is the most pressing health issue in the developed world: devastating at a personal level, and also a great burden to society as a whole: we need to find a cure!
Outside the lab, what do you get up to?
For the last 6 months I have been doing my research in my spare time as I’m working at St George’s Hospital! But spending time with my family, walks in the country, running and the occasional box set keep me going.
A link to a summary of Davina’s award-winning science paper is here.